Optimisation of the Danish national haemoglobinopathy screening programme - A prospective intervention study

INTRODUCTION: The Danish national haemoglobinopathy screening programme offers screening to at-risk pregnant women. Despite efforts to increase awareness of the screening programme, most women in the target population remain unscreened. In contrast, > 90% of pregnant women in Denmark attend a screening for chromosomal abnormalities by combined first-trimester screening (cFTS).

METHODS: This study aimed to improve adherence to the Danish national haemoglobinopathy screening programme by offering screening to at-risk unscreened pregnant women in relation to their cFTS.

RESULTS: During a 27-week intervention period, 3254 women attended cFTS at Copenhagen University Hospital-Amager Hvidovre Hospital. Of these, 938 women (28.8%) were identified as at risk of carrying haemoglobinopathy variants based on their ethnic origins. Of the 938 women at risk, 539 (57.5%) were unscreened prior to their cFTS and were targeted for the intervention. These women were contacted with an offer of haemoglobinopathy screening. Subsequently, 253/539 (46.9%) of the at-risk unscreened women were tested for haemoglobinopathies, of these 4/253 (1.6%) carried haemoglobinopathy variants necessitating partner screening. No partners carried haemoglobinopathy variants necessitating testing of the fetus.

CONCLUSION: The study increased the proportion of at-risk pregnant women tested for haemoglobinopathies from 42.5% to 69.5% and made haemoglobinopathy screening more readily available to women attending cFTS.